MASTL

Chr 10p12.1

microtubule associated serine/threonine kinase like

Aliases:: FLJ14813, THC2, Gwl
MANE:: ENST00000375940.9

OMIM: 608221 ↗NCBI: 84930 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MASTL · Q96GX5

v62025-08-01

Predicted Aligned Error matrix for MASTL — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

54.2/ 100

Low

879 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)13%
Low(50–70)7%
Very low(< 50)60%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Cytopenia - NOT Fanconi anaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenias and congenital anaemias
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodegenerative disease
0.54
multiple sclerosis
0.50
Parkinson disease
0.50
lysosomal storage disease
0.50
Alzheimer disease
0.50
autosomal thrombocytopenia with normal platelets
0.37
Thrombocytopenia
0.24
severe aplastic anemia
0.18
congenital anomaly of cardiovascular system
0.18
thrombocytopenia 2
0.15

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Serine/threonine-protein kinase greatwall

Serine/threonine kinase that plays a key role in M phase by acting as a regulator of mitosis entry and maintenance (PubMed:19680222). Acts by promoting the inactivation of protein phosphatase 2A (PP2A) during M phase: does not directly inhibit PP2A but acts by mediating phosphorylation and subsequent activation of ARPP19 and ENSA at 'Ser-62' and 'Ser-67', respectively (PubMed:38123684). ARPP19 and ENSA are phosphatase inhibitors that specifically inhibit the PPP2R2D (PR55-delta) subunit of PP2A. Inactivation of PP2A during M phase is essential to keep cyclin-B1-CDK1 activity high (PubMed:20818157). Following DNA damage, it is also involved in checkpoint recovery by being inhibited. Phosphorylates histone protein in vitro; however such activity is unsure in vivo. May be involved in megakaryocyte differentiation